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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-102830708-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102830708&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102830708,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000102.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1521C>T",
"hgvs_p": "p.Ser507Ser",
"transcript": "NM_000102.4",
"protein_id": "NP_000093.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 508,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369887.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000102.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1521C>T",
"hgvs_p": "p.Ser507Ser",
"transcript": "ENST00000369887.4",
"protein_id": "ENSP00000358903.3",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 508,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000102.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369887.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Ser516Ser",
"transcript": "ENST00000960108.1",
"protein_id": "ENSP00000630166.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 517,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960108.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Ser516Ser",
"transcript": "ENST00000960123.1",
"protein_id": "ENSP00000630182.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 517,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960123.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1524C>T",
"hgvs_p": "p.Ser508Ser",
"transcript": "ENST00000639393.1",
"protein_id": "ENSP00000492651.1",
"transcript_support_level": 5,
"aa_start": 508,
"aa_end": null,
"aa_length": 509,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639393.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1518C>T",
"hgvs_p": "p.Ser506Ser",
"transcript": "ENST00000960106.1",
"protein_id": "ENSP00000630165.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 507,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960106.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1515C>T",
"hgvs_p": "p.Ser505Ser",
"transcript": "ENST00000960110.1",
"protein_id": "ENSP00000630168.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 506,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960110.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Ser496Ser",
"transcript": "ENST00000960117.1",
"protein_id": "ENSP00000630177.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 497,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960117.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Ser496Ser",
"transcript": "ENST00000960119.1",
"protein_id": "ENSP00000630178.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 497,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960119.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1455C>T",
"hgvs_p": "p.Ser485Ser",
"transcript": "ENST00000960121.1",
"protein_id": "ENSP00000630180.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 486,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960121.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Ser484Ser",
"transcript": "ENST00000960109.1",
"protein_id": "ENSP00000630167.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 485,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960109.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Ser484Ser",
"transcript": "ENST00000960114.1",
"protein_id": "ENSP00000630174.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 485,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960114.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1437C>T",
"hgvs_p": "p.Ser479Ser",
"transcript": "ENST00000960111.1",
"protein_id": "ENSP00000630170.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 480,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960111.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1434C>T",
"hgvs_p": "p.Ser478Ser",
"transcript": "ENST00000638971.1",
"protein_id": "ENSP00000492313.1",
"transcript_support_level": 5,
"aa_start": 478,
"aa_end": null,
"aa_length": 479,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638971.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1365C>T",
"hgvs_p": "p.Ser455Ser",
"transcript": "ENST00000960122.1",
"protein_id": "ENSP00000630181.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 456,
"cds_start": 1365,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960122.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1251C>T",
"hgvs_p": "p.Ser417Ser",
"transcript": "ENST00000960120.1",
"protein_id": "ENSP00000630179.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 418,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960120.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1218C>T",
"hgvs_p": "p.Ser406Ser",
"transcript": "ENST00000638190.1",
"protein_id": "ENSP00000492539.1",
"transcript_support_level": 5,
"aa_start": 406,
"aa_end": null,
"aa_length": 407,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638190.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1068C>T",
"hgvs_p": "p.Ser356Ser",
"transcript": "ENST00000960113.1",
"protein_id": "ENSP00000630172.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 357,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960113.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "c.1065C>T",
"hgvs_p": "p.Ser355Ser",
"transcript": "ENST00000638272.1",
"protein_id": "ENSP00000491508.1",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 356,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "n.1283C>T",
"hgvs_p": null,
"transcript": "ENST00000640633.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000640633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "WBP1L",
"gene_hgnc_id": 23510,
"hgvs_c": "n.*418-28G>A",
"hgvs_p": null,
"transcript": "ENST00000647664.1",
"protein_id": "ENSP00000498131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"hgvs_c": "n.*240C>T",
"hgvs_p": null,
"transcript": "ENST00000469683.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469683.1"
}
],
"gene_symbol": "CYP17A1",
"gene_hgnc_id": 2593,
"dbsnp": "rs747186331",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.388,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000102.4",
"gene_symbol": "CYP17A1",
"hgnc_id": 2593,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1521C>T",
"hgvs_p": "p.Ser507Ser"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647664.1",
"gene_symbol": "WBP1L",
"hgnc_id": 23510,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*418-28G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}